Table 1.

Main clinical findings in percentages of individuals with molecularly confirmed Rubinstein-Taybi syndrome

	HPO ID*	CREBBP (n=308)	EP300 (n=52)
Growth
Intrauterine growth retardation	0001511	49	42
Postnatal growth retardation	0004322	75	66
Obesity	0001513	29	39
Microcephaly	0000252	54	87
Craniofacial features
Highly arched eyebrows	0002253	85	65
Long eyelashes	0000527	89	90
Epicanthal folds	0000286	44	15
Strabismus	0000486	71	39
Myopia	0000545	56	24
Downslanted palpebral fissures	0000494	79	56
Convex nasal ridge	0000444	81	44
Columella below alae nasi	0009765	88	92
Typical smile†	0000273	94	47
Highly arched palate	0002705	77	67
Talon cusps‡	0011087	73	4
Micrognathia	0000347	61	42
Low-set ears	0000369	44	27
Trunk and limbs
Broad thumbs	0011304	96	69
Angulated thumbs	§	49	2
Broad finger tips	0011300	87	22
Broad halluces	0010055	95	81
Hypertrichosis	0000998	76	51
Keloids	0010562	23	10
Scoliosis	0002650	18	25
Cardiovascular anomalies	0002564	35	26
Constipation	0002019	76	54
Urinary tract anomalies	0000079	28	24
Neuromuscular
Seizures	0001250	25	10
Cognition and behaviour
Intellectual disability (any degree)	0001249	99	94
Autism/autism spectrum disorder	0000729	49	25

*HPO ID, Human Phenotype Ontology Identifier.

†Smile characterized by crescent-moon shaped palpebral fissures, deepening of labionasal folds, upturned corners of the mouth, usually mouth almost closed, tight upper vermillion and pouting lower vermillion.

‡Permanent dentition.

§No HPO identifier available; we used as definition: angulation of the distal phalanx of a thumb towards the anterior axis (radial side) of the limb.